Disease: Syndactyly of the toes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		0.020 GeneticVariation disease BEFREE Mutations in the HECT domain of NEDD4L have recently been identified in a cohort of eight patients with a syndromic form of bilateral periventricular nodular heterotopia (PVNH) in association with neurodevelopmental delay, cleft palate, and toe syndactyly (PVNH7). 30393983 2018
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		0.020 GeneticVariation disease BEFREE Here we show that missense mutations in NEDD4L mapping to the HECT domain of the encoded E3 ubiquitin ligase lead to PNH associated with toe syndactyly, cleft palate and neurodevelopmental delay. 27694961 2016